Source: ALL
Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
CUI: C2931850
Disease: Aase Smith syndrome 2
Aase Smith syndrome 2 		16 0 15 0.41 0 0
CUI: C4021821
Disease: Abnormality of the urinary system
Abnormality of the urinary system 		50 0 21 0.32 0 0
CUI: C0002886
Disease: Anemia, Macrocytic
Anemia, Macrocytic 		51 0 21 0.32 0 0
CUI: C0018564
Disease: Hand deformities
Hand deformities 		60 0 21 0.28 0 0
CUI: C4228778
Disease: Abnormality of radial ray
Abnormality of radial ray 		34 0 13 0.23 0 0
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan 		86 0 21 0.21 0 0
CUI: C1842876
Disease: Depressed nasal ridge
Depressed nasal ridge 		117 0 22 0.17 0 0
CUI: C0030232
Disease: Pallor
Pallor 		124 0 21 0.15 0 0
CUI: C1839739
Disease: Thick lower lip vermilion
Thick lower lip vermilion 		145 0 21 0.13 0 0
CUI: C0858867
Disease: Reticulocytopenia
Reticulocytopenia 		17 0 6 0.13 0 0
CUI: C2676137
Disease: Diamond-Blackfan Anemia 1
Diamond-Blackfan Anemia 1 		12 0 5 0.12 0 0
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty 		196 0 24 0.12 0 0
CUI: C0542035
Disease: Erythroid hypoplasia
Erythroid hypoplasia 		14 0 5 0.11 0 0
CUI: C0302845
Disease: MCV - raised
MCV - raised 		12 0 4 9.1E-02 0 0
CUI: C0546389
Disease: Hepatic periportal necrosis
Hepatic periportal necrosis 		3 0 3 8.3E-02 0 0
CUI: C1856401
Disease: Glutaric Aciduria IIA
Glutaric Aciduria IIA 		3 0 3 8.3E-02 0 0
CUI: C1856403
Disease: Glutaric Aciduria IIB
Glutaric Aciduria IIB 		3 0 3 8.3E-02 0 0
CUI: C1856405
Disease: Glutaric Aciduria IIC
Glutaric Aciduria IIC 		3 0 3 8.3E-02 0 0
CUI: C4022547
Disease: Elevated red cell adenosine deaminase activity
Elevated red cell adenosine deaminase activity 		3 0 3 8.3E-02 0 0
CUI: C4025586
Disease: Electron transfer flavoprotein-ubiquinone oxidoreductase defect
Electron transfer flavoprotein-ubiquinone oxidoreductase defect 		3 0 3 8.3E-02 0 0
CUI: C1854114
Disease: Short nose
Short nose 		265 0 23 8.3E-02 0 0
CUI: C4025603
Disease: Glutaric acidemia
Glutaric acidemia 		5 0 3 7.9E-02 0 0
CUI: C1853136
Disease: Neutral Lipid Storage Disease with Myopathy
Neutral Lipid Storage Disease with Myopathy 		6 0 3 7.7E-02 0 0
CUI: C1865353
Disease: Ethylmalonic aciduria
Ethylmalonic aciduria 		6 0 3 7.7E-02 0 0
CUI: C0268594
Disease: Glutaric aciduria
Glutaric aciduria 		8 0 3 7.3E-02 0 0